Canonical Allele Identifier: CA726629736

Gene: PEMT

Linked Data

• dbSNP Id: rs4646356
• MyVariant Identifiers: chr17:g.17471175G>C (hg19) ; chr17:g.17567861G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17567861G>C , CM000679.2:g.17567861G>C	GRCh38
NC_000017.10:g.17471175G>C , CM000679.1:g.17471175G>C	GRCh37
NC_000017.9:g.17411900G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000255389.10:c.204+9059C>G MANE Select	ENSP00000255389.5:n.204+9059C>G
ENST00000255389.9:c.204+9059C>G	ENSP00000255389.5:n.204+9059C>G
ENST00000395781.6:c.204+9059C>G	ENSP00000379127.2:n.204+9059C>G
ENST00000395782.5:c.93+9059C>G	ENSP00000379128.1:n.93+9059C>G
ENST00000395783.5:c.93+9059C>G	ENSP00000379129.1:n.93+9059C>G
ENST00000421096.5:n.228+9059C>G
ENST00000435340.6:c.138+9059C>G	ENSP00000391288.2:n.138+9059C>G
ENST00000461404.1:c.205-2555C>G	ENSP00000463713.1:n.205-2555C>G
ENST00000472446.1:n.215+9059C>G
ENST00000580147.5:c.204+9059C>G	ENSP00000463112.1:n.204+9059C>G
NM_001267551.1:c.138+9059C>G	NP_001254480.1:n.138+9059C>G
NM_001267552.1:c.204+9059C>G	NP_001254481.1:n.204+9059C>G
NM_007169.2:c.93+9059C>G	NP_009100.2:n.93+9059C>G
NM_148172.2:c.204+9059C>G	NP_680477.1:n.204+9059C>G
NM_148173.1:c.93+9059C>G	NP_680478.1:n.93+9059C>G
XM_006721418.2:c.141+9059C>G	XP_006721481.2:n.141+9059C>G
XM_006721418.4:c.141+9059C>G	XP_006721481.2:n.141+9059C>G
XM_024450532.1:c.93+9059C>G	XP_024306300.1:n.93+9059C>G
NM_148172.3:c.204+9059C>G MANE Select	NP_680477.1:n.204+9059C>G
NM_001267551.2:c.138+9059C>G	NP_001254480.1:n.138+9059C>G
NM_001267552.2:c.204+9059C>G	NP_001254481.1:n.204+9059C>G
NM_007169.3:c.93+9059C>G	NP_009100.2:n.93+9059C>G
NM_148173.2:c.93+9059C>G	NP_680478.1:n.93+9059C>G